Charlevoix-Saguenay spastic ataxia

An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on c

An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.

Signs and symptoms

• Spastic gait
• Ataxia
• Hyperactive patellar reflex
• Pontine T2 hypointensity
• Nystagmus
• Peroneal muscle atrophy
• Cerebellar vermis atrophy
• Decreased motor nerve conduction velocity
• Dysarthria
• Urinary urgency